Product Details

SNP ID

rs2856242

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:237156 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTACACGAAGAAGTGAGCGCCGA[G/C]CAGACGGGCCCTGGGCCCCGGCGAT

Phenotype

MIM: 603481 MIM: 604481

Polymorphism

G/C, Transversion substitution

Allele Nomenclature

Literature Links

PSMD13 PubMed Links

Gene Details

Gene

PSMD13

Gene Name

proteasome 26S subunit, non-ATPase 13

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002817.3		Intron			NP_002808.3
NM_175932.2		Intron			NP_787128.2
XM_011520235.2		Intron			XP_011518537.1

Gene

SIRT3

Gene Name

sirtuin 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001017524.2		Intron			NP_001017524.1
NM_012239.5		Intron			NP_036371.1
XM_005252835.1		Intron			XP_005252892.1
XM_011519956.1		Intron			XP_011518258.1
XM_011519957.1		Intron			XP_011518259.1
XM_017017428.1		Intron			XP_016872917.1
XM_017017429.1		Intron			XP_016872918.1
XM_017017430.1		Intron			XP_016872919.1
XM_017017431.1		Intron			XP_016872920.1

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